Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_provenance.
- NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_assertion wasGeneratedBy ECO_0000203 NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_provenance.
- NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_assertion wasDerivedFrom befree-20140225 NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_provenance.
- NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_assertion SIO_000772 17054105 NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_provenance.
- NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_assertion evidence source_evidence_literature NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_provenance.
- NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_assertion description "[To further investigate the phenotypic spectrum associated with germline HRAS mutations and characterize their molecular diversity, subjects with a diagnosis of CS (N = 9), Noonan syndrome (NS; N = 36), cardiofaciocutaneous syndrome (CFCS; N = 4), or with a phenotype suggestive of these conditions but without a definitive diagnosis (N = 12) were screened for the entire coding sequence of the gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP657248.RAyAoecBHYp4Vvhc6sb_Z-T4YW3EIiv96_9rhEWPhY-cg130_provenance.